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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SERPINA3

Variant:p.E288V

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SERPINA3

NM_001085.5:p.E288V

hg38:chr14:94619414 A>T

Associated Papers

Mendelian causes of early-onset emphysema: a review of the current literature.

Karabatic A et al.

European Respiratory Review : an Official Journal of the European Respiratory Society, 2025

41224373 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."